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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2013/04/23 14:27:43」(JST)

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Melorheostosis is a medical developmental disorder and mesenchymal dysplasia in which the bony cortex widens and becomes hyperdense in a sclerotomal distribution.

Diagnosis

Melorheostosis is thought to be caused by a mutation of the LEMD3 gene. The disorder can be detected by radiograph due to thickening of bony cortex resembling "dripping candle wax". It is included on the spectrum of developmental bone dysplasias including pycnodysostosis and osteopoikilosis.^[1] The disorder tends to be unilateral and monoostotic, with only one limb typically involved. Cases with involvement of multiple limbs, ribs, and bones in the spine have also been reported. There are no reported cases of involvement of skull or facial bones. Melorheostosis can be associated with pain, physical deformity, skin and circulation problems, contractures, and functional limitation. It is also associated with a benign inner ear dysplasia known as osteosclerosis.^[2]

It is not known if LEMD3 mutations can cause isolated melorheostosis in the absence of Buschke-Ollendorff syndrome.^[3]

Treatment

The disorder is progressive, with the ultimate severity of symptoms often depending on age of onset. In severe cases amputation has been performed when conservative measures such as physical therapy and regional anesthetics have been ineffective.^[4]

References

^ Azouz ME Greenspan A. "Melorheostosis - Orpha.net".
^ Subhas N, Sundaram M, Bauer TW, Seitz WH, Recht MP (2008). "Glenoid labrum ossification and mechanical restriction of joint motion: extraosseous manifestations of melorheostosis". Skeletal Radiol. 37 (2): 177–81. doi:10.1007/s00256-007-0405-4. PMID 18030463.
^ Zhang Y, Castori M, Ferranti G, Paradisi M, Wordsworth BP (June 2009). "Novel and recurrent germline LEMD3 mutations causing Buschke-Ollendorff syndrome and osteopoikilosis but not isolated melorheostosis". Clin. Genet. 75 (6): 556–61. doi:10.1111/j.1399-0004.2009.01177.x. PMID 19438932.
^ Graham LE, Parke RC (2005). "Melorheostosis--an unusual cause of amputation". Prosthet Orthot Int 29 (1): 83–6. doi:10.1080/17461550500066808. PMID 16180380.

External links

01061 at CHORUS
The Melorheostosis Association

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English Journal

Detection of extensive melorheostosis on bone scintigram performed for suspected metastases.

Sonoda LI, Halim MY, Balan KK.SourceDepartment of Nuclear Medicine, Addenbrooke's Hospital, Cambridge, England, United Kingdom. luke@sonoda.co.uk
Clinical nuclear medicine.2011 Mar;36(3):240-1.
Melorheostosis is a rare but benign disorder characterized by asymmetric osteosclerotic dysplasia. Radiographic appearances are characteristic and described as "melting wax flowing down a candle." This disorder may involve more than one bone contiguously across the joints following a sclerotomal dis
PMID 21285690

Arthroscopically assisted knee contracture release secondary to melorheostosis: a case report.

Claramunt RT, Lopez XP, Palou EC, Garcia JC, Verdie LP.SourceHospital del Mar, Passeig Maritim 25-29, 08003 Barcelona, Spain. RTorresClaramunt@parcdesalutmar.cat
Knee surgery, sports traumatology, arthroscopy : official journal of the ESSKA.2011 Feb;19(2):264-6. Epub 2010 May 20.
Melorheostosis is a rare non-hereditary bone disease characterized by a radiographic pattern of flowing hyperostosis along the cortex with sclerotomal distribution. We report a case of a patient with severe knee contracture and a restricted range of motion caused by intraarticular bone fragment and
PMID 20490459